Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R465*

DPYS

219 papers

RefSeq Summary

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb...

Pfam Domains

Amidohydro_1aa 58–447UCSCAmidohydrolase family

Gene Aliases

HGNC Name

dihydropyrimidinase

HGNC Alias Symbol

DHPase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_001385.3
p.R465*
c.1393C>T
Surrounding Variants
1 paper
NM_001385.3
p.R465Q
c.1394G>A
1 paper
NM_001385.3
p.P467S
c.1399C>T
7 papers
NM_001385.3
p.R475*
c.1423C>T
1 paper
NM_001385.3
p.R475Q
c.1424G>A
1 paper
NM_001385.3
p.F453I
c.1357T>A
1 paper
NM_001385.3
p.E449K
c.1345G>A
2 papers
NM_001385.3
p.R481W
c.1441C>T
2 papers
NM_001385.3
p.Y448H
c.1342T>C
4 papers
NM_001385.3
p.R481_T482Splc
c.1443+5G>A
1 paper
NM_001385.3
p.S442*
c.1325C>G
1 paper
NM_001385.3
p.S442*
c.1325C>A
6 papers
NM_001385.3
p.G435R
c.1303G>C
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